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Chunk #48 — GENEOTYPES AND PHENOTYPES — Database of Single Nucleotide Polymorphisms (dbSNP)

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Database resources of the National Center for Biotechnology Information.
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In collaboration with Locus Specific Databases (LSDBs), dbSNP integrates information about rare genetic variants with clinical impact. Two web submission forms were created to facilitate submission of LSDB/clinical variant information and support variant descriptions using the Human Genome Variation Society (HGVS) standards with a RefSeq standard sequence. A user can search and annotate existing variations or submit novel ones, either as a single variation (www.ncbi.nlm.nih.gov/projects/SNP/tranSNP/tranSNP.cgi) or as a batch (www.ncbi.nlm.nih.gov/projects/SNP/tranSNP/VarBatchSub.cgi).